Incidental Mutation 'R4247:Snx8'
| ID |
320461 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snx8
|
| Ensembl Gene |
ENSMUSG00000029560 |
| Gene Name |
sorting nexin 8 |
| Synonyms |
B130023O14Rik |
| MMRRC Submission |
041063-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4247 (G1)
|
| Quality Score |
196 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
140326054-140375017 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 140341800 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 121
(L121P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142866
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031539]
[ENSMUST00000196020]
[ENSMUST00000196130]
[ENSMUST00000196566]
[ENSMUST00000197880]
[ENSMUST00000198945]
|
| AlphaFold |
Q8CFD4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031539
AA Change: L147P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031539
Gene: ENSMUSG00000029560
AA Change: L147P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
30 |
N/A |
INTRINSIC |
|
PX
|
60 |
173 |
1.56e-18 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195982
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000196020
AA Change: L25P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142491
Gene: ENSMUSG00000029560
AA Change: L25P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PX
|
1 |
51 |
3.7e-9 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000196130
AA Change: L99P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142390
Gene: ENSMUSG00000029560
AA Change: L99P
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
12 |
125 |
9.7e-21 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000196566
AA Change: L99P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142556
Gene: ENSMUSG00000029560
AA Change: L99P
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
12 |
125 |
9.7e-21 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197880
|
| SMART Domains |
Protein: ENSMUSP00000142394
Gene: ENSMUSG00000029560
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PX
|
15 |
88 |
1.1e-11 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000198945
AA Change: L121P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142866
Gene: ENSMUSG00000029560
AA Change: L121P
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
34 |
147 |
9.7e-21 |
SMART |
|
| Meta Mutation Damage Score |
0.9745 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (41/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
T |
C |
5: 8,195,626 (GRCm39) |
I305V |
probably benign |
Het |
| Aga |
T |
A |
8: 53,964,865 (GRCm39) |
L9Q |
possibly damaging |
Het |
| Akna |
C |
T |
4: 63,313,409 (GRCm39) |
G238D |
probably benign |
Het |
| Arhgap23 |
G |
A |
11: 97,354,525 (GRCm39) |
E813K |
probably damaging |
Het |
| Atp13a2 |
T |
C |
4: 140,719,539 (GRCm39) |
|
probably null |
Het |
| Atp8a1 |
C |
T |
5: 67,824,917 (GRCm39) |
G820S |
probably damaging |
Het |
| Ccdc97 |
T |
G |
7: 25,415,459 (GRCm39) |
H68P |
possibly damaging |
Het |
| Dclre1b |
A |
C |
3: 103,711,400 (GRCm39) |
|
probably null |
Het |
| Erap1 |
T |
C |
13: 74,823,414 (GRCm39) |
I816T |
probably damaging |
Het |
| Fubp1 |
G |
A |
3: 151,937,573 (GRCm39) |
A103T |
possibly damaging |
Het |
| Gnal |
C |
G |
18: 67,221,654 (GRCm39) |
P19R |
unknown |
Het |
| Gtf3c5 |
T |
C |
2: 28,461,196 (GRCm39) |
D306G |
probably damaging |
Het |
| Hecw2 |
C |
T |
1: 53,871,804 (GRCm39) |
V1381M |
probably damaging |
Het |
| Hsdl2 |
A |
T |
4: 59,594,417 (GRCm39) |
N16I |
probably damaging |
Het |
| Kif14 |
G |
T |
1: 136,401,126 (GRCm39) |
M492I |
possibly damaging |
Het |
| Kif27 |
A |
G |
13: 58,435,731 (GRCm39) |
V1354A |
probably damaging |
Het |
| Kif9 |
G |
T |
9: 110,325,027 (GRCm39) |
|
probably null |
Het |
| Lmtk3 |
G |
A |
7: 45,443,486 (GRCm39) |
C723Y |
possibly damaging |
Het |
| Lrrc24 |
A |
G |
15: 76,602,176 (GRCm39) |
I193T |
possibly damaging |
Het |
| Or2bd2 |
A |
G |
7: 6,441,901 (GRCm39) |
|
probably benign |
Het |
| Or52b1 |
T |
C |
7: 104,979,355 (GRCm39) |
I15V |
probably benign |
Het |
| Pkd1l1 |
C |
T |
11: 8,815,543 (GRCm39) |
R1456K |
possibly damaging |
Het |
| Pramel52-ps |
A |
G |
5: 94,531,446 (GRCm39) |
D110G |
possibly damaging |
Het |
| Ranbp2 |
A |
G |
10: 58,314,686 (GRCm39) |
D1802G |
possibly damaging |
Het |
| Resf1 |
T |
A |
6: 149,227,041 (GRCm39) |
M29K |
possibly damaging |
Het |
| Satl1 |
A |
G |
X: 111,316,033 (GRCm39) |
S141P |
probably benign |
Het |
| Scn11a |
C |
T |
9: 119,636,952 (GRCm39) |
V250M |
probably damaging |
Het |
| Slitrk1 |
A |
G |
14: 109,149,994 (GRCm39) |
V239A |
possibly damaging |
Het |
| Slitrk6 |
T |
A |
14: 110,988,171 (GRCm39) |
D512V |
probably damaging |
Het |
| Sumf1 |
A |
C |
6: 108,131,974 (GRCm39) |
V156G |
probably damaging |
Het |
| Tamalin |
G |
T |
15: 101,122,418 (GRCm39) |
R79L |
possibly damaging |
Het |
| Trp73 |
A |
G |
4: 154,149,089 (GRCm39) |
|
probably null |
Het |
| Tsen2 |
A |
G |
6: 115,524,785 (GRCm39) |
|
probably benign |
Het |
| Upp1 |
T |
C |
11: 9,084,815 (GRCm39) |
I178T |
probably benign |
Het |
| Vmn2r73 |
A |
T |
7: 85,521,883 (GRCm39) |
L152Q |
probably damaging |
Het |
| Vmn2r97 |
T |
C |
17: 19,167,542 (GRCm39) |
S599P |
possibly damaging |
Het |
| Wrnip1 |
T |
C |
13: 32,990,866 (GRCm39) |
L375P |
probably damaging |
Het |
| Zfp945 |
C |
T |
17: 23,069,583 (GRCm39) |
G793D |
probably damaging |
Het |
| Zfyve9 |
C |
A |
4: 108,576,389 (GRCm39) |
A231S |
probably benign |
Het |
|
| Other mutations in Snx8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01338:Snx8
|
APN |
5 |
140,343,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01394:Snx8
|
APN |
5 |
140,337,934 (GRCm39) |
missense |
probably benign |
0.00 |
|
Dickens
|
UTSW |
5 |
140,343,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4248:Snx8
|
UTSW |
5 |
140,341,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4249:Snx8
|
UTSW |
5 |
140,341,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4250:Snx8
|
UTSW |
5 |
140,341,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4670:Snx8
|
UTSW |
5 |
140,341,713 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4982:Snx8
|
UTSW |
5 |
140,337,989 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5339:Snx8
|
UTSW |
5 |
140,343,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5341:Snx8
|
UTSW |
5 |
140,343,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5755:Snx8
|
UTSW |
5 |
140,338,796 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5945:Snx8
|
UTSW |
5 |
140,339,235 (GRCm39) |
missense |
probably benign |
|
|
R7214:Snx8
|
UTSW |
5 |
140,346,008 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7527:Snx8
|
UTSW |
5 |
140,341,827 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7851:Snx8
|
UTSW |
5 |
140,343,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7960:Snx8
|
UTSW |
5 |
140,343,848 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8444:Snx8
|
UTSW |
5 |
140,343,929 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGATGCCCAGCCTGTGAAC -3'
(R):5'- TGATAGACCTGGCCATTCCTC -3'
Sequencing Primer
(F):5'- CTCTAGTATGAGCTCAAACTGGG -3'
(R):5'- TCCACCCATGCATGTTTGG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation